Featured Publications
De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy
Sega AG, Mis EK, Lindstrom K, Mercimek-Andrews S, Ji W, Cho MT, Juusola J, Konstantino M, Jeffries L, Khokha MK, Lakhani SA. De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy. Journal Of Medical Genetics 2018, 56: 113. PMID: 30323019, DOI: 10.1136/jmedgenet-2018-105322.Peer-Reviewed Original ResearchConceptsEarly infantile epileptic encephalopathyInfantile epileptic encephalopathyEpileptic encephalopathyPatient variantsDe novo pathogenic variantsNovel de novo variantNovo pathogenic variantsEarly-onset refractory seizuresDifferentiation factor 2Whole-exome sequencingNeuronal differentiation factorRefractory seizuresSignificant developmental delaySpontaneous seizuresUnderlying etiologyEctopic neuronsDe novo variantsPatient's conditionEncephalopathyPathogenic variantsSevere disordersDevelopmental delayUnrelated childrenExome sequencingGene mutations
2024
Unraveling the genetic tapestry of pediatric sarcomeric cardiomyopathies and masquerading phenocopies in Jordan
Azab B, Aburizeg D, Shaaban S, Ji W, Mustafa L, Isbeih N, Al-Akily A, Mohammad H, Jeffries L, Khokha M, Lakhani S, Al-Ammouri I. Unraveling the genetic tapestry of pediatric sarcomeric cardiomyopathies and masquerading phenocopies in Jordan. Scientific Reports 2024, 14: 15141. PMID: 38956129, PMCID: PMC11219879, DOI: 10.1038/s41598-024-64921-9.Peer-Reviewed Original ResearchConceptsExome sequencingSarcomere-related genesMitochondrial-related diseasesAt-risk family membersGenetic architectureGenetic landscapePathogenic variantsGene panelPediatric cardiomyopathyMolecular underpinningsGenetic testingPhenocopiesSarcomeric cardiomyopathiesGenesSequenceStorage disorderFamily membersAt-riskVariantsEarly interventionExomeFamilyGlycogen storage disorderHypertrophic cardiomyopathyCardiomyopathy
2023
Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta
Caron V, Chassaing N, Ragge N, Boschann F, Ngu A, Meloche E, Chorfi S, Lakhani S, Ji W, Steiner L, Marcadier J, Jansen P, van de Pol L, van Hagen J, Russi A, Le Guyader G, Nordenskjöld M, Nordgren A, Anderlid B, Plaisancié J, Stoltenburg C, Horn D, Drenckhahn A, Hamdan F, Lefebvre M, Attie-Bitach T, Forey P, Smirnov V, Ernould F, Jacquemont M, Grotto S, Alcantud A, Coret A, Ferrer-Avargues R, Srivastava S, Vincent-Delorme C, Romoser S, Safina N, Saade D, Lupski J, Calame D, Geneviève D, Chatron N, Schluth-Bolard C, Myers K, Dobyns W, Calvas P, Study T, Salmon C, Holt R, Elmslie F, Allaire M, Prigozhin D, Tremblay A, Michaud J. Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta. Genetics In Medicine 2023, 25: 100856. PMID: 37092537, PMCID: PMC10757562, DOI: 10.1016/j.gim.2023.100856.Peer-Reviewed Original ResearchConceptsPathogenic variantsLikely pathogenic variantsRetinoic acid receptor betaDevelopmental eye anomaliesGlobal developmental delayAcid receptor betaRetinoic acid receptor beta geneExtensive clinical heterogeneityClinical spectrumClinical dataEye anomaliesMotor impairmentCardinal featuresClinical heterogeneityReceptor betaNormal responseBirth anomaliesDevelopmental delayFunction variantsSyndromic formsAffected individualsDominant variantVariable phenotypeFunctional heterogeneityBeta gene